ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1438A>G (p.Met480Val)

gnomAD frequency: 0.00001  dbSNP: rs1280400930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669124 SCV000793838 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-09-01 criteria provided, single submitter clinical testing
GeneDx RCV003238800 SCV003936793 likely pathogenic not provided 2023-01-03 criteria provided, single submitter clinical testing Reported with a second GLB1 variant, phase unknown, in a patient with infantile GM1-gangliosidosis (Higaki et al., 2011); Published functional studies demonstrate M480V reduced beta-galactosidase activity to approximately 10% of wild-type (Takai et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21520340, 29396849, 23337983)

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